Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Lys312insC HGVS1163_1164ins1, located in exon 8 of the LPL gene
| Title : Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees - Hu_2007_J.Lipid.Res_48_1681 |
| Author(s) : Hu Y , Ren Y , Luo RZ , Mao X , Li X , Cao X , Guan L , Chen X , Li J , Long Y , Zhang X , Tian H |
| Ref : J Lipid Res , 48 :1681 , 2007 |
| Abstract : |
| PubMedSearch : Hu_2007_J.Lipid.Res_48_1681 |
| PubMedID: 17476032 |
| Gene_locus related to this paper: human-LPL |